Phenotypes associated with this allele

• Allele Symbol: Ppfia3^em1Pska
• Allele Name: endonuclease-mediated mutation 1, Pascal S Kaeser
• Allele ID: MGI:6356372
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppfia3^em1Pska/Ppfia3^em1Pska	129S2.FVB-Ppfia3^em1Pska	MGI:6472631

Genotype
MGI:6472631

hm1

• Allelic Composition: Ppfia3^em1Pska/Ppfia3^em1Pska
• Genetic Background: 129S2.FVB-Ppfia3^em1Pska

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

increased locomotor activity ( J:265782 )

• in the open field assay, mice are less spatially confined and show a decreased number of low-mobility bouts and increased distance traveled relative to wild-type controls

nervous system

abnormal synaptic vesicle exocytosis ( J:265782 )

• hippocampal neurons display reduced synaptic vesicle tethering and docking and impaired synaptic vesicle exocytosis

abnormal synaptic bouton morphology ( J:265782 )

• small decrease in bouton size and postsynaptic density (PSD) length suggesting a mild structural change in bouton formation

abnormal synapse morphology ( J:265782 )

• stimulated emission depletion (STED) microscopy of hippocampal synapses revealed mild alterations in the presynaptic active zone structure, accompanied by translocation of Ppfia2 (Liprin-alpha2) to the active zone

abnormal postsynaptic density morphology ( J:265782 )

• small decrease in postsynaptic density (PSD) length, only observed when hippocampal neurons are cryofixed by high-pressure freezing

abnormal CNS synaptic transmission ( J:265782 )

• field recordings in acute brain slices revealed a defect in synaptic strength in excitatory Schaffer collateral to CA1 synapses of the hippocampus

cellular

abnormal synaptic vesicle exocytosis ( J:265782 )

• hippocampal neurons display reduced synaptic vesicle tethering and docking and impaired synaptic vesicle exocytosis